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Mondo Disease Ontology
| Preferred Name | maple syrup urine disease | |
| Synonyms |
maple syrup urine disease, type 1A maple syrup urine disease, type 2 maple syrup urine disease, type 1B maple syrup urine disease, intermittent branched-chain Alpha-Keto acid dehydrogenase deficiency maple syrup urine disease, Intermediate maple syrup urine disease, classic Keto acid decarboxylase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, thiamine-responsive Ketoacidaemia branched-chain ketoaciduria BCKDH deficiency maple syrup urine disease BCKD deficiency branched-chain 2-ketoacid dehydrogenase deficiency branched chain ketoaciduria MSUD |
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| Definitions |
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009563 |
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| comment |
Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct
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| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009563 |
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| database_cross_reference |
OMIMPS:248600 MESH:D008375 NORD:1400 DOID:9269 ICD10CM:E71.0 NANDO:2200473 MEDGEN:6217 Orphanet:511 icd11.foundation:1623706568 SCTID:27718001 NCIT:C34806 GARD:3228 NANDO:1200791 UMLS:C0024776 MedDRA:10026817
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| definition |
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.
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| has_exact_synonym |
Ketoacidaemia branched-chain ketoaciduria BCKDH deficiency maple syrup urine disease BCKD deficiency branched-chain 2-ketoacid dehydrogenase deficiency branched chain ketoaciduria MSUD
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| has_narrow_synonym |
maple syrup urine disease, type 1A maple syrup urine disease, type 2 maple syrup urine disease, type 1B
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| has_related_synonym |
maple syrup urine disease, intermittent branched-chain Alpha-Keto acid dehydrogenase deficiency maple syrup urine disease, Intermediate maple syrup urine disease, classic Keto acid decarboxylase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, thiamine-responsive
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| IAO_0000233 | ||
| id |
MONDO:0009563
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#prototype_pattern |
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| label |
maple syrup urine disease
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| notation |
MONDO:0009563
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| prefLabel |
maple syrup urine disease
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| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_511 http://identifiers.org/medgen/6217 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1623706568 http://linkedlifedata.com/resource/umls/id/C0024776 http://identifiers.org/mesh/D008375 http://purl.obolibrary.org/obo/DOID_9269 https://omim.org/phenotypicSeries/PS248600 http://identifiers.org/snomedct/27718001 |
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